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Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with Gaucher disease
M Eapen1, M Hostetter, J P Neglia
1Department of Hematology/Oncology, University of Minnesota, Minneapolis, USA.
Purpose:
Gaucher disease should be considered in the differential diagnosis of a patient with Epstein-Barr virus (EBV) infection who has unexplained or disproportionate splenomegaly.
Patients And Methods:
A previously asymptomatic adolescent with EBV-associated infectious mononucleosis and massive splenomegaly is described. He was found to have Gaucher disease on bone marrow biopsy, which was performed to exclude a hematologic malignancy. The diagnosis was confirmed by assay of beta-glucosidase enzyme activity.
Results:
Regression of splenomegaly and improving hematologic indices.
Conclusion:
Patients with infectious mononucleosis and disproportionate organomegaly should be investigated to exclude a hematologic malignancy or an underlying storage disorder such as Gaucher disease.